Failure to thrive, and Congestive heart failure

Diseases related with Failure to thrive and Congestive heart failure

In the following list you will find some of the most common rare diseases related to Failure to thrive and Congestive heart failure that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Congestive heart failure

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Congestive heart failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Hypertrophic cardiomyopathy Lactic acidosis Growth delay Metabolic acidosis Muscle weakness Arrhythmia Dilated cardiomyopathy Myopathy Muscular hypotonia Ataxia Increased serum lactate Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Spinal rigidity Generalized amyotrophy Hyperalaninemia Congenital muscular dystrophy Poor head control Flexion contracture Dysphagia Axial muscle weakness Hyperreflexia Optic atrophy Nystagmus Severe muscular hypotonia Microcephaly Seizures Respiratory insufficiency Pes planus Short stature Scoliosis High palate Mandibular prognathia Pulmonary arterial hypertension Hip dysplasia Hemeralopia Mitral valve prolapse Microretrognathia Delayed gross motor development Multiple joint contractures High pitched voice Abnormal fundus morphology Orofacial dyskinesia Restless legs Restrictive deficit on pulmonary function testing Ophthalmoparesis Dysdiadochokinesis Cone/cone-rod dystrophy Macular degeneration Psychosis Sensory impairment Dysmetria Ophthalmoplegia Mental deterioration Neonatal hypotonia Photophobia Reduced visual acuity Babinski sign Right ventricular hypertrophy Right ventricular failure Muscle fiber atrophy Decreased testicular size Penile hypospadias 3-Methylglutaric aciduria Noncompaction cardiomyopathy Testicular dysgenesis Glutaric aciduria Nonprogressive cerebellar ataxia Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Perineal hypospadias Microcytic anemia Hypokinesia Prolonged QT interval Abnormality of the genital system Mitral regurgitation Aciduria Cerebral atrophy Sudden cardiac death Hepatic steatosis Postnatal growth retardation Hypoglycemia Hypospadias Anemia Cryptorchidism Intellectual disability Absent muscle fiber merosin Intermittent episodes of respiratory insufficiency due to muscle weakness Weakness of facial musculature Limited neck flexion Increased muscle lipid content Nocturnal hypoventilation Visual loss Dysarthria Cerebellar atrophy Cytochrome C oxidase-negative muscle fibers Muscular dystrophy Hyperlordosis Elevated serum creatine phosphokinase Talipes equinovarus Gait disturbance Skeletal muscle atrophy Abnormality of the mitochondrion Hyperglutaminemia Decreased activity of mitochondrial complex IV Myocardial necrosis Abnormal mitochondrial morphology Oroticaciduria Decreased activity of mitochondrial complex I Abnormality of the basal ganglia Limb muscle weakness Abnormality of mitochondrial metabolism Infantile muscular hypotonia Abnormal mitochondrial shape Sensorineural hearing impairment Hearing impairment Low-output congestive heart failure Myocardial fibrosis Myocarditis Nemaline bodies Cardiac arrest Bradycardia Otitis media Vomiting Hypertension Narrow chest Abnormality of the foot Blindness Visual impairment Encephalopathy Abnormality of the periventricular white matter Clonus Leukodystrophy Left ventricular hypertrophy Ventricular hypertrophy Delayed myelination Abnormality of the cerebral white matter Muscular hypotonia of the trunk Absent speech Hypertonia EEG abnormality Pulmonary hypoplasia Spasticity Joint hyperflexibility Generalized muscle weakness Histiocytoid cardiomyopathy Staring gaze Limb-girdle muscle weakness Neck muscle weakness Respiratory distress Cyanosis Cachexia Respiratory insufficiency due to muscle weakness EMG abnormality Myocardial infarction Decreased fetal movement Limitation of joint mobility Talipes Normochromic microcytic anemia


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